Anencephaly: Symptoms & Signs, Diagnosis & Tests

Symptoms & Signs

* Absence of the skull
* Absence of the brain (cerebral hemispheres and cerebellum)
* Facial feature abnormalities
* Heart defects

Diagnosis & Tests

A pregnancy ultrasound is done to confirm the diagnosis. The ultrasound may reveal too much fluid is in the uterus. This condition is called polyhydramnios.

Other tests that may be done on the pregnant mother:

* Amniocentesis (to look for increased levels of alpha-fetoprotein)
* Alpha-fetoprotein level (increased levels suggest a neural tube defect)
* Urine estriol level

A pre-pregnancy serum folic acid test may also be done.

Anencephaly: Overview, Causes

Anencephaly: Symptoms & Signs, Diagnosis & Tests

Anencephaly: Treatment

Review Date : 11/18/2009
Reviewed By : David C. Dugdale, III, MD, Professor of Medicine, Division of General Medicine, Department of Medicine, University of Washington School of Medicine; Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only — they do not constitute endorsements of those other sites. © 1997- 2010 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.

Disclaimer: This content including advice provides generic information only. It is in no way a substitute for qualified medical opinion. Always consult a specialist or your own doctor for more information. NDTV does not claim responsibility for this information.

Tags: , , .

Leave a comment